Canonical Allele Identifier: CA996238796

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793788-GGGGGTCCTGGACTCCT-G
• gnomAD v4: 19-44793788-GGGGGTCCTGGACTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793792_44793807del , CM000681.2:g.44793792_44793807del	GRCh38
NC_000019.9:g.45297049_45297064del , CM000681.1:g.45297049_45297064del	GRCh37
NC_000019.8:g.49988889_49988904del	NCBI36
NG_054718.1:g.20938_20953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+172_1284+187del MANE Select	ENSP00000494162.1:n.1284+172_1284+187del
ENST00000270279.7:c.1284+172_1284+187del	ENSP00000270279.3:n.1284+172_1284+187del
ENST00000341505.4:c.1146+172_1146+187del	ENSP00000340250.4:n.1146+172_1146+187del
NM_001130852.1:c.1146+172_1146+187del	NP_001124324.1:n.1146+172_1146+187del
NM_012116.3:c.1284+172_1284+187del	NP_036248.3:n.1284+172_1284+187del
XM_005258696.2:c.1284+172_1284+187del	XP_005258753.1:n.1284+172_1284+187del
XM_011526688.1:c.1284+172_1284+187del	XP_011524990.1:n.1284+172_1284+187del
XM_011526689.1:c.1146+172_1146+187del	XP_011524991.1:n.1146+172_1146+187del
XR_935783.1:n.1231+172_1231+187del
NM_012116.4:c.1284+172_1284+187del MANE Select	NP_036248.3:n.1284+172_1284+187del
XM_005258696.3:c.1284+172_1284+187del	XP_005258753.1:n.1284+172_1284+187del
XM_011526688.2:c.1284+172_1284+187del	XP_011524990.1:n.1284+172_1284+187del
XM_011526689.2:c.1146+172_1146+187del	XP_011524991.1:n.1146+172_1146+187del
XR_935783.2:n.1236+172_1236+187del